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Disease	HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Synonym	CBS DEFICIENCY
OMIM	236200 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	cystathionine ß-synthase Detailed enzyme information on www.expacy.ch
Gene locus	21q22.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Cystathionine beta-synthase
genetests.org	search search on genetest.org by MIM 236200 search search on genetest.org by CYSTATHIONINE+BETA-SYNTHASE Testing - View a listing of laboratories that provide clinical testing for this disorder Reviews - Read the GeneReview for this disorder 1:344000 1:60000 (Ireland) - 1:146000 (Japan) autosomal recessive 50% pyridoxine-responsive patients
Clinical symptoms	aortic valvular disease arachnodyctyly arthritis ataxia behavior, abnormal or bizarre, confusion cataract cerebral vascular disease dislocated lens (ectopia lentis) glaucoma inguinal hernia liver, fatty mental retardation myoclonus myopia optic atrophy osteoporosis pancreatitis retinal or macular degeneration seizures skeletal changes skin, brittle strokelike episodes tall stature thromboembolism X-ray, abnormalities
Abnormal Findings in plasma	Ceruloplasmin Normal: 15.00-50.00 mg/dl \| Significant : - increased Coagulation factors \| Significant : - decreased Copper Normal: 90.00-190.00 µg/dl \| Significant : - increased Homocysteine Normal: 4.80-7.40 µmol/l \| Significant : 50.00-200.00 µmol/l Homocystine Normal: -5.00 µmol/l \| Significant : 50.00-200.00 µmol/l Methionine Normal: 10.00-30.00 µmol/l \| Significant : 150.00-2000.00 µmol/l Ornithine Normal: 27.00-103.00 µmol/l \| Significant : - increased
Abnormal Findings in urine	Cystathionine Normal: 16.00-147.00 µmol/l \| Significant : - increased Homocysteine \| Significant : 0.00-0.00 increased Homocystine Normal: -88.00 µmol/l \| Significant : 0.00-1.00 mmol/24h
Treatment	aspirin, low dose (?) baclofen betaine folic acid methionine-restricted diet vitamin B12 (hydroxycobalamin) Vitamin B6 (pyridoxine)
Literature	There are 17 publications available. Click here to open the relevant HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY publications
Ramedis Case reports with long term followup	There are 8 patient data available. Click here to open the list of HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY patients documented in Ramedis database